Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
about
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationRole of primary cilia in non-dividing and post-mitotic cells.Somatic Mutations in NEK9 Cause Nevus Comedonicus.Mitotic Regulation by NEK Kinase Networks.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
P2860
Q28385856-7D3276C6-926A-4FFE-A3E9-5DA0EA4F429FQ39210308-637BD874-A23C-4D8C-81DF-AD71913FA695Q41375187-95C424FD-088D-47E2-8179-06D356015FB3Q46237762-74005ABB-B32D-4C2D-9CF5-98ED00990A9BQ46904962-D859D865-B3C6-46D1-881B-77CE80D8A11BQ47178574-F0B0A3FC-8B01-4341-8739-144B9B9E9C26Q47863563-E8D2D187-623D-43D1-8042-597C6FC387EB
P2860
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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2016年學術文章
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name
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@en
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@nl
type
label
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@en
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@nl
prefLabel
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@en
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@nl
P2093
P2860
P50
P356
P1476
Recessive NEK9 mutation causes ...... ell cycle and ciliary defects.
@en
P2093
Helen Murphy
Huw Dorkins
Jillian P Casey
Margaret M Mc Gee
Neeti Ghali
Paul McGettigan
Sally Ann Lynch
P2860
P304
P356
10.1093/HMG/DDW054
P577
2016-02-21T00:00:00Z